Family Adenomatous Polyposis, Colorectal Neoplasms, Gene APC, Mutation, Phenotype, Genotype
Conditions
Interventions
Single-arm, uncontrolled study (with no control arm), with 132 patients recruited tested positively for APC gene mutation. At time zero, all patients undergo endoscopic examinations directed to the d
Procedure/surgery
Behavioural
Genetics
A09.371.729.313
Sponsors
Fundação Pio XII
Fundação Pio XII
Eligibility
Inclusion criteria
Inclusion criteria: Carriers of Classical Familial Adenomatous Polyposis Syndrome. Carriers of pathogenic germline variants in the APC gene.
Exclusion criteria
Exclusion criteria: Familiar members tested to the mutation in the APC gene not carrying APC gene-related mutation. Patients carrying the mutation in the APC gene who are not willing to undergo the protocol of screening tests for colonic and extra-colonic manifestations.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Determination of active medical interventions derived from research related to the study. Determination of morbidity rates found in the study population. Description of invasive medical interventions directed to complementary diagnoses and treatment of morbid conditions diagnosed in the study population. | — |
Secondary
| Measure | Time frame |
|---|---|
| Clinical complications resulting from diagnostic and therapeutic interventions performed in patients who take part of the study. | — |
Countries
Brazil
Contacts
Public ContactJunea Oliveira
Hospital de Câncer de Barretos
Outcome results
None listed